AI Article Synopsis
- SPOAN syndrome is a rare autosomal recessive neurodegenerative disorder found in a Brazilian family, characterized by spastic paraplegia, optic atrophy, and neuropathy.
- A study involving 27 patients revealed absent sensory nerve action potentials in lower limbs and over 80% of upper limbs, along with reduced motor nerve conduction velocities and amplitudes.
- The findings suggest that SPOAN syndrome leads to severe early-onset sensory-motor axonal polyneuropathy, where normal nerve conduction studies can help exclude the diagnosis.
Article Abstract
Introduction: SPOAN (spastic paraplegia, optic atrophy, and neuropathy) syndrome is an autosomal recessive neurodegenerative disorder identified in a large consanguineous Brazilian family.
Methods: Twenty-seven patients with SPOAN syndrome (20 women), aged 4-58 years, underwent nerve conduction studies (NCS) of the median, ulnar, tibial, and fibular nerves, and sensory NCS of the median, ulnar, radial, sural, and superficial fibular nerves.
Results: Sensory nerve action potentials were absent in the lower limbs and absent in >80% of upper limbs. Motor NCS had reduced amplitudes and borderline velocities in the upper limbs and absent compound muscle action potentials (CMAPs) in the lower limbs.
Conclusions: The neuropathy in SPOAN syndrome is a severe, early-onset sensory-motor axonal polyneuropathy. Normal NCS seem to rule-out this condition.
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Article Synopsis
- SPOAN syndrome is a rare autosomal recessive neurodegenerative disorder found in a Brazilian family, characterized by spastic paraplegia, optic atrophy, and neuropathy.
- A study involving 27 patients revealed absent sensory nerve action potentials in lower limbs and over 80% of upper limbs, along with reduced motor nerve conduction velocities and amplitudes.
- The findings suggest that SPOAN syndrome leads to severe early-onset sensory-motor axonal polyneuropathy, where normal nerve conduction studies can help exclude the diagnosis.
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